Search results for "Child"
showing 10 items of 9191 documents
Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease
2018
SUMMARY Maternally skewed transmission of traits has been associated with genomic imprinting and oocyte-derived mRNA. We report canine congenital eye malformations, caused by an amino acid deletion (K12del) near the N terminus of retinol-binding protein (RBP4). The disease is only expressed when both dam and offspring are deletion homozygotes. RBP carries vitamin A (retinol) from hepatic stores to peripheral tissues, including the placenta and developing eye, where it is required to synthesize retinoic acid. Gestational vitamin A deficiency is a known risk factor for ocular birth defects. The K12del mutation disrupts RBP folding in vivo, decreasing its secretion from hepatocytes to serum. T…
Consumption of sugar-sweetened beverages and artificially sweetened beverages from childhood to adulthood in relation to socioeconomic status – 15 ye…
2018
Background In Norway, social inequalities in health and health-related behaviors have been reported despite the well-developed welfare state. The objective of the present study was to analyze; (i) the development in frequency of consumption of sugar-sweetened beverages (SSB) and artificially sweetened beverages (ASB) from childhood to adulthood; (ii) socioeconomic inequalities in the consumption of SSB and ASB using different indicators of socioeconomic status (SES); (iii) time trends in potential disparities in SSB and ASB consumption among different socioeconomic groups to assess the development in socioeconomic inequality from childhood to adulthood. Methods This study uses data from the…
What is the influence of parents' myopia on their children's myopic progression? A 22-year follow-up study.
2016
Purpose To study the connection between parental myopia and their children's myopia from school age to adulthood. Methods Two hundred and forty myopic schoolchildren (119 boys, 121 girls, mean age 10.9 years) with no previous spectacles for myopia were recruited to a 3-year treatment trial with different use of spectacles. Follow-ups were performed at mean ages of 13.9, 23.7 and 33.2 years for 238, 176 and 170 subjects respectively. Subjective refraction was calibrated to the spherical equivalent at corneal level (SEcor). Corneal refractive power (CR) and axial length (AL) were measured. Parental myopia was assessed with a questionnaire and the children assigned accordingly to one of three …
Long-term effects of a cluster randomized controlled kindergarten-based intervention trial on vegetable intake among Norwegian 3-5-year-olds: the BRA…
2020
AbstractObjectiveTo report on long-term effects of a cluster randomized controlled kindergarten-based intervention trial, which aimed to increase vegetable intake among Norwegian preschool children (3–5 years at baseline). The effects of the intervention at follow-up 1 (immediately post-intervention) have previously been published. This paper presents the effects of the intervention from baseline to follow-up 2 (12 months post-intervention).ResultsParental consents were obtained for 633 out of 1631 eligible children (response rate 38.8%). The effects of the intervention from baseline to follow-up 2 were assessed by mixed-model analyses taking the clustering effect of kindergartens into acco…
Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.
2016
International audience; Xq28 duplications encompassing MECP2 have been described in male patients with a severe neurodevelopmental disorder associated with hypotonia and spasticity, severe learning disability, stereotyped movements, and recurrent pulmonary infections. We report on standardized brain magnetic resonance imaging (MRI) data of 30 affected patients carrying an Xq28 duplication involving MECP2 of various sizes (228 kb to 11.7 Mb). The aim of this study was to seek recurrent malformations and attempt to determine whether variations in imaging features could be explained by differences in the size of the duplications. We showed that 93% of patients had brain MRI abnormalities such …
Clinical Characteristics of Patients Carrying the Q703K Variant of the NLRP3 Gene: A 10-year Multicentric National Study
2016
Objective.The aim of our study was to analyze the clinical and functional effect of the p.Q703K (p. Q705K, c. 2107C>A) variant of the NLRP3 gene in a population of patients screened for suspected cryopyrin-associated periodic syndrome (CAPS).Methods.Since 2002, 580 patients underwent molecular analysis for NLRP3. Data on clinical presentation, response to treatment, and longterm followup were collected using a uniform questionnaire. The pattern of cytokine secretion after lipopolysaccharide stimulation from isolated monocytes was analyzed in 3 patients carrying the p.Q703K variant and 1 patient with a chronic infantile neurologic, cutaneous, articular syndrome phenotype carrying both the…
Estimating Global Burden of Disease due to congenital anomaly: an analysis of European data
2017
ObjectiveTo validate the estimates of Global Burden of Disease (GBD) due to congenital anomaly for Europe by comparing infant mortality data collected by EUROCAT registries with the WHO Mortality Database, and by assessing the significance of stillbirths and terminations of pregnancy for fetal anomaly (TOPFA) in the interpretation of infant mortality statistics.Design, setting and outcome measuresEUROCAT is a network of congenital anomaly registries collecting data on live births, fetal deaths from 20 weeks’ gestation and TOPFA. Data from 29 registries in 19 countries were analysed for 2005–2009, and infant mortality (deaths of live births at age <1 year) compared with the WHO Mortality …
Preventive Effect of Cow's Milk Fermented with Lactobacillus paracasei CBA L74 on Common Infectious Diseases in Children: A Multicenter Randomized Co…
2017
Background: Fermented foods have been proposed to prevent common infectious diseases (CIDs) in children attending day care or preschool. Objectives: To investigate the efficacy of dietary supplementation with cow’s skim milk fermented with the probiotic Lactobacillus paracasei CBA L74 in reducing CIDs in children attending day care or preschool. Methods: Multicenter, randomized, double-blind, placebo-controlled trial on healthy children (aged 12–48 months) consuming daily 7 grams of cow’s skim milk fermented with L. paracasei CBA L74 (group A), or placebo (maltodextrins group B) attending day care or preschool during the winter season. The main outcome was the proportion of children who exp…
An international registry for primary ciliary dyskinesia
2016
Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder leading to chronic upper and lower airway disease. Fundamental data on epidemiology, clinical presentation, course and treatment strategies are lacking in PCD. We have established an international PCD registry to realise an unmet need for an international platform to systematically collect data on incidence, clinical presentation, treatment and disease course.The registry was launched in January 2014. We used internet technology to ensure easy online access using a web browser under www.pcdregistry.eu. Data from 201 patients have been collected so far. The database is comprised of a basic data form including demographic…
Interim 2017/18 influenza seasonal vaccine effectiveness: combined results from five European studies
2018
Between September 2017 and February 2018, influenza A(H1N1)pdm09, A(H3N2) and B viruses (mainly B/Yamagata, not included in 2017/18 trivalent vaccines) co-circulated in Europe. Interim results from five European studies indicate that, in all age groups, 2017/18 influenza vaccine effectiveness was 25 to 52% against any influenza, 55 to 68% against influenza A(H1N1)pdm09, -42 to 7% against influenza A(H3N2) and 36 to 54% against influenza B. 2017/18 influenza vaccine should be promoted where influenza still circulates. Funding: The five studies have received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No 634446 to conduct the study in…